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American Journal of Human Genetics

ISSNs: 0002-9297

Additional searchable ISSN (electronic): 1537-6605

Cell Press

Scopus rating (2024): CiteScore 14 SJR 4.531 SNIP 2.47

Journal

Titles	American Journal of Human Genetics American journal of human genetics
Additional searchable titles	American journal of human genetics, American journal of human genetics., Am J Hum Genet
ISSNs	0002-9297
Additional searchable ISSN (electronic)	1537-6605
Publisher	Cell Press
ZDB-ID	219384-X
ZDB-ID	1473813-2

Keywords

ASJC Scopus subject areas

Genetics
Genetics (clinical)

Library keywords

570 Biology

Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies

NMA Consortium, Di Donato, N., Thom, A., Rump, A., Greve, J. N., Cadiñanos, J. & Calabro, S. & 36 others, Cathey, S., Chung, B., Cope, H., Costales, M., Cuvertino, S., Dinkel, P., Erripi, K., Fry, A. E., Garavelli, L., Hoffjan, S., Janzarik, W. G., Kreimer, I., Mancini, G., Marin-Reina, P., Meinhardt, A., Niehaus, I., Pilz, D., Ricca, I., Simarro, F. S., Schrock, E., Marquardt, A., Taft, M. H., Tezcan, K., Thunström, S., Verhagen, J., Verloes, A., Wollnik, B., Krawitz, P., Hsieh, T.-C., Seifert, M., Heide, M., Lawrence, C. B., Roberts, N. A., Manstein, D. J., Woolf, A. S. & Banka, S., 5 Feb 2026, In: American journal of human genetics. 113, 2, p. 324-341 18 p.

Research output: Contribution to journal › Research article › Contributed › peer-review

GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders

Rekerle, L., Danis, D., Rehburg, F., Graefe, A. S. L., Bily, V., Caballero-Oteyza, A. & Cacheiro, P. & 27 others, Chimirri, L., Chong, J. X., Connelly, E., de Vries, B. B. A., Dingemans, A. J. M., Duyzend, M. H., Freiberger, T., Gehle, P., Groza, T., Hansen, P., Jacobsen, J. O. B., Klocperk, A., Ladewig, M. S., Love, M. I., Marcello, A. J., Mordhorst, A., Munoz-Torres, M. C., Reese, J., Schuetz, C., Smedley, D., Strauss, T., Vladyka, O., Zocche, D., Thun, S., Mungall, C. J., Haendel, M. A. & Robinson, P. N., 8 Jan 2026, In: American journal of human genetics. 113, 1, p. 57-70 14 p.

Research output: Contribution to journal › Research article › Contributed › peer-review

Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans

Guo, L., Salian, S., Xue, J.-Y., Rath, N., Rousseau, J., Kim, H. & Ehresmann, S. & 32 others, Moosa, S., Nakagawa, N., Kuroda, H., Clayton-Smith, J., Wang, J., Wang, Z., Banka, S., Jackson, A., Zhang, Y.-M., Wei, Z.-J., Hüning, I., Brunet, T., Ohashi, H., Thomas, M. F., Bupp, C., Miyake, N., Matsumoto, N., Mendoza-Londono, R., Costain, G., Hahn, G., Di Donato, N., Yigit, G., Yamada, T., Nishimura, G., Ansel, K. M., Wollnik, B., Hrabě de Angelis, M., Mégarbané, A., Rosenfeld, J. A., Heissmeyer, V., Ikegawa, S. & Campeau, P. M., 6 Jul 2023, In: American journal of human genetics. 110, 7, p. 1068-1085 18 p.

Research output: Contribution to journal › Research article › Contributed

Bi-allelic variants in INTS11 are associated with a complex neurological disorder

Undiagnosed Diseases Network, Gößwein, S. & Di Donato, N., 4 May 2023, In: American journal of human genetics. 110, 5, p. 774-789 16 p.

Research output: Contribution to journal › Research article › Contributed

Germline MBD4 deficiency causes a multi-tumor predisposition syndrome

Genomics England Research Consortium, CORGI Consortium & WGS500 Consortium, 5 May 2022, In: American journal of human genetics. 109, 5, p. 953-960 9 p.

Research output: Contribution to journal › Research article › Contributed › peer-review

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Research Portal of the TU Dresden

Keywords

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